ClinVar Miner

List of variants in gene combination ALDOA, ASPHD1, C16orf92, CDIPT, CORO1A, DOC2A, GDPD3, HIRIP3, INO80E, KCTD13, KIF22, MAPK3, MAZ, MVP, PAGR1, PPP4C, PRRT2, SEZ6L2, TAOK2, TBX6, TLCD3B, TMEM219, YPEL3 reported as pathogenic for HNSHA due to aldolase A deficiency

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 1
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HGVS dbSNP gnomAD frequency
NC_000016.9:g.(?_29802081)_(30199917_?)del

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